Search Results - Bregje W.M. van Bon

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  1. 1
    Effect of periconceptional undernutrition and gender on hypothalamic–pituitary–adrenal axis function in young adult sheep

    Effect of periconceptional undernutrition and gender on hypothalamic–pituitary–adrenal axis function in young adult sheep by David S. Gardner, Bregje W.M. van Bon, J. Dandrea, P. J. Goddard, Scott May, Vickie S. Wilson, Terence Stephenson, Michael Symonds

    Published 2006
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  2. 2
    Cantú Syndrome Resulting from Activating Mutation in the<i>KCNJ8</i>Gene

    Cantú Syndrome Resulting from Activating Mutation in the<i>KCNJ8</i>Gene by Paige Cooper, Heiko Reutter, Joachim Woelfle, Hartmut Engels, Dorothy K. Grange, Gijs van Haaften, Bregje W.M. van Bon, Alexander Hoischen, Colin G. Nichols

    Published 2014
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  3. 3
    A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

    A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome by Sonja A. de Munnik, Sixto García‐Miñaúr, Alexander Hoischen, Bregje W.M. van Bon, Kym M. Boycott, Jeroen Schoots, Lies H. Hoefsloot, Nine Knoers, Ernie M.H.F. Bongers, Han G. Brunner

    Published 2013
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  4. 4
    Speech and language deficits are central to SETBP1 haploinsufficiency disorder

    Speech and language deficits are central to SETBP1 haploinsufficiency disorder by Angela Morgan, Ruth Braden, Maggie M. K. Wong, Estelle Colin, David J. Amor, Frédérique Liégeois, Siddharth Srivastava, Adam P. Vogel, Varoona Bizaoui, Kara Ranguin, Simon E. Fisher, Bregje W.M. van Bon

    Published 2021
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  5. 5
    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype by Maian Roifman, Carlo Marcelis, Tara Paton, Christian R. Marshall, Rachel Silver, Jamie L. Lohr, Helger G. Yntema, Hanka Venselaar, Hülya Kayserili, Bregje W.M. van Bon, Gareth Seaward, Han G. Brunner, David Chitayat

    Published 2014
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  6. 6
    Clinical Significance of De Novo and Inherited Copy-Number Variation

    Clinical Significance of De Novo and Inherited Copy-Number Variation by Anneke T. Vulto-van Silfhout, Jayne Y. Hehir‐Kwa, Bregje W.M. van Bon, Janneke Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw, Bert de Vries

    Published 2013
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  7. 7
    DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

    DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome by Janson J. White, Juliana F. Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Bregje W.M. van Bon, V. Reid Sutton, James R. Lupski, Han G. Brunner, Claudia M.B. Carvalho

    Published 2016
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  8. 8
    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

    Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability by Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers

    Published 2012
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  9. 9
    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis by Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen‐Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjærgaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Katherine Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter D. Turnpenny, Bregje W.M. van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob

    Published 2011
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  10. 10
    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID by Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Denglin Li, David G. Amaral, Francesca Cristofoli, Hilde Peeters, E Haan, Corrado Romano, Heather C. Mefford, Ingrid E. Scheffer, Jozef Gécz, Bert B.A. de Vries, Evan E. Eichler

    Published 2015
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  11. 11
    Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

    Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy by G. McMichael, Matthew N. Bainbridge, Eric Haan, Mark Corbett, Alison Gardner, Suzanna Thompson, Bregje W.M. van Bon, Clare L. van Eyk, J. L. BROADBENT, Chandra A. Reynolds, Michael O’Callaghan, Lam Son Nguyen, David L. Adelson, Remo Russo, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Donna M. Muzny, Richard A. Gibbs, Jozef Gécz, Alastair H. MacLennan

    Published 2015
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  12. 12
    Cantú Syndrome Is Caused by Mutations in ABCC9

    Cantú Syndrome Is Caused by Mutations in ABCC9 by Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Østergaard, Éva Morava, Konstantinos Tsiakas, Bertrand Isidor, M Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Han G. Brunner, Bert B.A. de Vries, Alexander Hoischen

    Published 2012
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  13. 13
    Mutations in MED12 Cause X-Linked Ohdo Syndrome

    Mutations in MED12 Cause X-Linked Ohdo Syndrome by Anneke T. Vulto‐van Silfhout, Bert de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp‐Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer

    Published 2013
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  14. 14
    DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

    DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome by Janson J. White, Juliana F. Mazzeu, Alexander Hoischen, Shalini N. Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge Saraiva, Hanne Hove, Flemming Skovby, Hülya Kayserili, Elicia Estrella, Anneke T. Vulto-van Silfhout, Marloes Steehouwer, Donna M. Muzny, V. Reid Sutton, Richard A. Gibbs, James R. Lupski, Han G. Brunner, Bregje W.M. van Bon, Claudia M.B. Carvalho

    Published 2015
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  15. 15
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder by Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Roselló, Swaroop Aradhya, Dimitri J. Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C. Hodge, Michael E. Talkowski, James F. Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E. Pyatt, Darrel Waggoner, Lisa G. Shaffer, Angela E. Lin, Bert B.A. de Vries, Roberto Mendoza-Londoño, Sarah H. Elsea

    Published 2013
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  16. 16
    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations by Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje W.M. van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, Elizabeth A. Jones, Han G. Brunner, Rosa Laura E. van Loon, Eric Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniené, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J. J. Maal, Celeste C. van Heumen, Helger G. Yntema, Carine Carels, Tjitske Kleefstra

    Published 2014
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  17. 17
    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophila</i>

    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophi... by Marjolein H. Willemsen, Bonnie Nijhof, Michaela Fencková, Willy M. Nillesen, Ernie M.H.F. Bongers, Anna Castells‐Nobau, Lenke Asztalos, Erika Viràgh, Bregje W.M. van Bon, Emre Tezel, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries, Joep de Ligt, Helger G. Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltán Asztalos, David A. Koolen, Lisenka E.L.M. Vissers, Annette Schenck, Tjitske Kleefstra

    Published 2013
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  18. 18
    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability by Raman Kumar, Mark Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gécz

    Published 2015
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  19. 19
    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures by Gaëlle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie‐Ange Delrue, Laëtitia Duboscq-Bidot, Ann‐Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Métay, A. Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie‐Pierre Quéré, Cecilia Soussi‐Zander, Annick Toutain, Didier Lacombe, Benoı̂t Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David, Cédric Le Caignec

    Published 2012
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  20. 20
    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype by Bregje W.M. van Bon, David A. Koolen, Louise Brueton, Dominic McMullan, Klaske D. Lichtenbelt, Lesley C. Adès, Gregory B. Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, F Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan Pm de Brouwer, Joris A. Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, S Reitano, D Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

    Published 2009
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